{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA100382",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 27,
          "referenceAllele": "C",
          "start": 26
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006547",
      "geneNCBI_id": 3949,
      "geneSymbol": "LDLR",
      "hgvs": [
        "NP_000518.1:p.Cys27Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA041664",
          "hgvs": "NM_000527.5:c.81C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147062"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=228117[alleleid]",
        "alleleId": 228117,
        "preferredName": "NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/226304",
        "RCV": [
          "RCV000211569",
          "RCV000588365",
          "RCV001283999",
          "RCV002426989",
          "RCV003128396"
        ],
        "variationId": 226304
      }
    ]
  },
  "type": "amino-acid"
}